ArticleJapanese journal of ophthalmology2017
Correlation between the COL4A3, MMP-9, and TIMP-1 polymorphisms and risk of keratoconus.
Article in Japanese journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Exploring biomarkers for keratoconus: current insights and future directions.Molecular biology reports · 2025Review
- Corneal enzymatic digestion resistance in the presence of oestradiol and oestradiol plus selective tissue oestrogenic activity regulators (STEAR).BMJ open ophthalmology · 2025Article
- Analysis of progranulin concentration in corneal epithelium and tears as a possible biomarker in the clinical diagnosis and progression of keratoconus.International ophthalmology · 2025Article
- Screening and Identification of Basement Membrane-Related Gene Signatures for Diagnosis in Keratoconus Through WGCNA and Machine Learning.Journal of ophthalmology · 2025Article
- Systemic and Ocular Associations of Keratoconus.Expert review of ophthalmology · 2024Article
- Biochemical Aspects of Scaffolds for Cartilage Tissue Engineering; from Basic Science to Regenerative Medicine.The archives of bone and joint surgery · 2022Review
- Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.Journal of ophthalmology · 2022Article
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Differential expression ofOncology letters · 2021Article
- The Impact of Matrix Metalloproteinase-9 on the Sequential Steps of the Metastatic Process.International journal of molecular sciences · 2020Review
- Do age-related macular degeneration genes show association with keratoconus?Eye and vision (London, England) · 2019Article
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4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeKeratoconus (KC) is thinning of the central cornea. Its etiology is unknown, but it may result from degrading of collagen type IV. The major protein in the cornea is collagen. Matrix metalloproteinase-9 (MMP-9) is able to degrade collagen type IV from the basement membrane and extracellular matrix (ECM). MMP-9 enzymatic activity is inhibited by the tissue inhibitor of metalloproteinase-1 (TIMP-1). In the present study, we sought to investigate and evaluate the effects of single nucleotide polymorphisms in COL4A3, MMP-9, and TIMP-1 on the risk of KC in an Iranian population sample.
methodsThis case-control study was performed on 140 KC patients and 150 healthy controls. Genotyping of the COL4A3 rs55703767, MMP-9 rs17576, and TIMP-1 rs6609533 polymorphisms was done using amplification refractory mutation system polymerase chain reaction (ARMS-PCR).
resultsOur findings showed that the rs55703767G/T polymorphism decreased the risk of KC (OR = 0.26, 95% CI = 0.08-0.82, P = 0.022). rs17576A/G, associated with KC and the A allele, was significantly overrepresented in healthy individuals. rs6609533A/G (X-chromosome) increased the risk of KC in females (OR = 2.27, 95% CI = 1.06-4.76, P = 0.036). In males, the allele frequency was not associated with KC risk/protection.
conclusionsThis study indicates that in our population, the COL4A3 rs55703767 polymorphism decreased the risk of KC. However, the TIMP-1 rs6609533 polymorphism was associated with an increased risk of KC.
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